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BLM Bloom syndrome RecQ like helicase [ Homo sapiens (human) ]

Gene ID: 641, updated on 9-Jul-2017
Official Symbol
BLMprovided by HGNC
Official Full Name
Bloom syndrome RecQ like helicaseprovided by HGNC
Primary source
HGNC:HGNC:1058
See related
Ensembl:ENSG00000197299 MIM:604610; Vega:OTTHUMG00000149834
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BS; RECQ2; RECQL2; RECQL3
Summary
The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
Orthologs
Location:
15q26.1
Exon count:
25
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (90717327..90815462)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91260579..91358686)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene CREB regulated transcription coactivator 3 Neighboring gene CRTC3 antisense RNA 1 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 1585 Neighboring gene uncharacterized LOC105370969 Neighboring gene RNA, 7SL, cytoplasmic 363, pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of Bloom syndrome, RecQ helicase-like (BLM) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

  • BRCA1-associated genome surveillance complex (BASC), organism-specific biosystem (from KEGG)
    BRCA1-associated genome surveillance complex (BASC), organism-specific biosystemStructural complex; Genetic information processing; Repair system
  • BRCA1-associated genome surveillance complex (BASC), conserved biosystem (from KEGG)
    BRCA1-associated genome surveillance complex (BASC), conserved biosystemStructural complex; Genetic information processing; Repair system
  • Bloom's syndrome complex, organism-specific biosystem (from KEGG)
    Bloom's syndrome complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
  • Bloom's syndrome complex, conserved biosystem (from KEGG)
    Bloom's syndrome complex, conserved biosystemStructural complex; Genetic information processing; Repair system
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
    Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
    G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
  • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
    G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
  • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
  • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
    Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
  • Homologous recombination, organism-specific biosystem (from KEGG)
    Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homologous recombination, conserved biosystem (from KEGG)
    Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • Integrated Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Cancer Pathway, organism-specific biosystem
    Integrated Cancer Pathway
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic recombination, organism-specific biosystem (from REACTOME)
    Meiotic recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
    Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
  • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
    Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
  • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
  • Regulation of TP53 Activity through Phosphorylation, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity through Phosphorylation, organism-specific biosystemPhosphorylation of TP53 (p53) at the N-terminal serine residues S15 and S20 plays a critical role in protein stabilization as phosphorylation at these sites interferes with binding of the ubiquitin l...
  • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Telomerase, organism-specific biosystem
    Regulation of Telomerase
  • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
    Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
  • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
  • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
  • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
    SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
  • SUMOylation, organism-specific biosystem (from REACTOME)
    SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
  • SUMOylation of DNA damage response and repair proteins, organism-specific biosystem (from REACTOME)
    SUMOylation of DNA damage response and repair proteins, organism-specific biosystemSeveral factors that participate in DNA damage response and repair are SUMOylated (reviewed in Dou et al. 2011, Bekker-Jensen and Mailand 2011, Ulrich 2012, Psakhye and Jentsch 2012, Bologna and Ferr...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126616, MGC131618, MGC131620

Gene Ontology Provided by GOA

Function Evidence Code Pubs
8-hydroxy-2'-deoxyguanosine DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP-dependent 3'-5' DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
ATP-dependent DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP-dependent DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ATP-dependent helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
G-quadruplex DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Y-form DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
annealing helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
bubble DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
forked DNA-dependent helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
four-way junction DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
four-way junction helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
telomeric D-loop binding IDA
Inferred from Direct Assay
more info
PubMed 
telomeric G-quadruplex DNA binding IC
Inferred by Curator
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA double-strand break processing IDA
Inferred from Direct Assay
more info
PubMed 
DNA duplex unwinding IDA
Inferred from Direct Assay
more info
PubMed 
DNA recombination NAS
Non-traceable Author Statement
more info
PubMed 
DNA repair NAS
Non-traceable Author Statement
more info
PubMed 
DNA replication ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA replication TAS
Traceable Author Statement
more info
 
DNA strand renaturation IEA
Inferred from Electronic Annotation
more info
 
DNA synthesis involved in DNA repair TAS
Traceable Author Statement
more info
 
G-quadruplex DNA unwinding IDA
Inferred from Direct Assay
more info
PubMed 
G-quadruplex DNA unwinding ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to camptothecin IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to hydroxyurea IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
 
double-strand break repair via homologous recombination NAS
Non-traceable Author Statement
more info
PubMed 
mitotic G2 DNA damage checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of DNA recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell division IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
protein complex oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
protein oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of DNA-dependent DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cyclin-dependent protein serine/threonine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
replication fork processing IDA
Inferred from Direct Assay
more info
PubMed 
replication fork protection NAS
Non-traceable Author Statement
more info
PubMed 
response to X-ray IDA
Inferred from Direct Assay
more info
PubMed 
strand displacement TAS
Traceable Author Statement
more info
 
t-circle formation TAS
Traceable Author Statement
more info
PubMed 
telomeric D-loop disassembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
PML body IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with PML body IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
lateral element IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
replication fork ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
Bloom syndrome protein
Names
Bloom syndrome, RecQ helicase-like
DNA helicase, RecQ-like type 2
recQ protein-like 3
NP_000048.1
NP_001274175.1
NP_001274176.1
NP_001274177.1
XP_006720695.1
XP_011520183.1
XP_011520184.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007272.1 RefSeqGene

    Range
    4957..103091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_20

mRNA and Protein(s)

  1. NM_000057.3NP_000048.1  Bloom syndrome protein isoform 1

    See identical proteins and their annotated locations for NP_000048.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest protein (isoform 1). Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC124248, BC034480, BC062697, BC115030, CD707743, U39817
    Consensus CDS
    CCDS10363.1
    UniProtKB/Swiss-Prot
    P54132
    Related
    ENSP00000347232.3, OTTHUMP00000194750, ENST00000355112.7, OTTHUMT00000313495
    Conserved Domains (9) summary
    smart00341
    Location:12131292
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:6571143
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:861992
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:669841
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:372409
    BDHCT; BDHCT (NUC031) domain
    pfam09382
    Location:10721189
    RQC; RQC domain
    pfam16124
    Location:9971066
    RecQ_Zn_bind; RecQ zinc-binding
    pfam16202
    Location:1366
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:425647
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
  2. NM_001287246.1NP_001274175.1  Bloom syndrome protein isoform 1

    See identical proteins and their annotated locations for NP_001274175.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AC124248, BC115032, BC143288, BP363946, CD707743, DB520927
    Consensus CDS
    CCDS10363.1
    UniProtKB/Swiss-Prot
    P54132
    Conserved Domains (9) summary
    smart00341
    Location:12131292
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:6571143
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:861992
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:669841
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:372409
    BDHCT; BDHCT (NUC031) domain
    pfam09382
    Location:10721189
    RQC; RQC domain
    pfam16124
    Location:9971066
    RecQ_Zn_bind; RecQ zinc-binding
    pfam16202
    Location:1366
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:425647
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
  3. NM_001287247.1NP_001274176.1  Bloom syndrome protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC124248, BC062697, BC101567, BC115028, CD707743, DB520927
    Consensus CDS
    CCDS73782.1
    UniProtKB/Swiss-Prot
    P54132
    UniProtKB/TrEMBL
    H0YNU5
    Related
    ENSP00000454158.1, OTTHUMP00000248161, ENST00000560509.5, OTTHUMT00000417940
    Conserved Domains (8) summary
    TIGR00614
    Location:6571123
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:861992
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:669841
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:372409
    BDHCT; BDHCT (NUC031) domain
    pfam16124
    Location:9971066
    RecQ_Zn_bind; RecQ zinc-binding
    pfam16202
    Location:1366
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:425647
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
    cl02578
    Location:11091161
    HRDC; HRDC domain
  4. NM_001287248.1NP_001274177.1  Bloom syndrome protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in a 5' exon and uses a downstream translation start compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC021422, AC124248, BC062697, BC115032, BC143280, CD707743, DA122319, DB520927
    UniProtKB/Swiss-Prot
    P54132
    UniProtKB/TrEMBL
    B7ZKN7
    Conserved Domains (8) summary
    smart00341
    Location:838917
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:282768
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:486617
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:294466
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:134
    BDHCT; BDHCT (NUC031) domain
    pfam09382
    Location:697814
    RQC; RQC domain
    pfam16124
    Location:622691
    RecQ_Zn_bind; RecQ zinc-binding
    pfam16204
    Location:50272
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

    Range
    90717327..90815462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521882.2XP_011520184.1  Bloom syndrome protein isoform X1

    Conserved Domains (4) summary
    pfam00270
    Location:669841
    DEAD; DEAD/DEAH box helicase
    pfam08072
    Location:372409
    BDHCT; BDHCT (NUC031) domain
    pfam16202
    Location:1366
    BLM_N; N-terminal region of Bloom syndrome protein
    pfam16204
    Location:425647
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
  2. XM_011521881.2XP_011520183.1  Bloom syndrome protein isoform X2

    Conserved Domains (7) summary
    smart00341
    Location:775854
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:219705
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:423554
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:231403
    DEAD; DEAD/DEAH box helicase
    pfam09382
    Location:634751
    RQC; RQC domain
    pfam16124
    Location:559628
    RecQ_Zn_bind; RecQ zinc-binding
    pfam16204
    Location:1209
    BDHCT_assoc; BDHCT-box associated domain on Bloom syndrome protein
  3. XM_006720632.2XP_006720695.1  Bloom syndrome protein isoform X3

    Conserved Domains (6) summary
    smart00341
    Location:559638
    HRDC; Helicase and RNase D C-terminal
    TIGR00614
    Location:3489
    recQ_fam; ATP-dependent DNA helicase, RecQ family
    cd00079
    Location:207338
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00270
    Location:15187
    DEAD; DEAD/DEAH box helicase
    pfam09382
    Location:418535
    RQC; RQC domain
    pfam16124
    Location:343412
    RecQ_Zn_bind; RecQ zinc-binding

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    91102285..91200349
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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